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NIPT Blood Test - False Positive

(4 Posts)
TeamTape Sun 03-Feb-19 19:54:57

I just wanted to give some hope to anyone who may have taken the NIPT blood test and received bad results. We opted to have this blood test (also known as Harmony/Panorama/SAFE) as we were told it was 99% accurate and far better than the usual combined screening tests. Unfortunately we were called by the company (based in Harley Street) to give us the awful news that there was a 1 in 2 chance that our baby would have Trisomy 13 (also known as Patau’s Syndrome). They explained that this meant that if my baby went to full term, they would likely be stillborn or die shortly after birth. Both myself and my husband were absolutely devastated with this news. We spent most of the time googling to see if there was any chance it could be incorrect or if there was anything we could do and only found a handful of posts relating to Trisomy 13. In the meantime I was booked in for a CVS which carries risks in itself. That week waiting for the results was horrendous, but then we had the call that the results had come back normal. We were in shock and actually had to call the hospital straight back to ask them to repeat it to us. Apparently there can be something called Mosaicism of the placenta which means some cells are affected but it doesn’t necessarily mean the baby is affected. Also, the NIPT blood test is based on algorithms including age etc which can skew the results. Having said all that, the doctors we saw were actually shocked that our baby was ok given the results. One doctor commented that he’d only seen a false positive result in 2 cases previously. We were looked after by the fetal medicine team for the remainder of my pregnancy. I guess the point of this post is to say that there is hope and that these tests can be wrong. We are just so relieved that we didn’t make any rash decisions based on the results of the blood test.

Tini17 Wed 06-Feb-19 04:03:38

Excellent news, good luck with rest of your pregnancy smile

However, 1 in 2 chance is not a false positive - it is a 50:50 chance expressed differently.
NIPT is not a diagnostic test, although it is often talked about as one, it is still a screening test. CVS/ Amnio is a diagnostic test.

ReaganSomerset Wed 06-Feb-19 05:05:05

What Tini17 said. A 50% chance isn't a diagnosis.

Good luck with the rest of the pregnancy.

SparrowSG Wed 06-Feb-19 17:48:45

Not sure if I am allowed to post this here as it links to another Mother/Baby community site, but there are a large number of false positive and also true positive stories on here dating back a number of years. I found it helpful to me as I wait to see if my high risk Harmony T13 result is followed with a positive diagnosis.

community.babycenter.com/post/a44976535/anyone_elses_t13_baby_look_totally_normal_on_ultrasound?

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